The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.
Basic statistical analysis in genetic case-control studies
Open accessAbstract
This protocol describes how to perform basic statistical analysis in a population-based genetic association case-control study. The steps described involve the (i) appropriate selection of measures of association and relevance of disease models; (ii) appropriate selection of tests of association; (iii) visualization and interpretation of results; (iv) consideration of appropriate methods to control for multiple testing; and (v) replication strategies. Assuming no previous experience with software such as PLINK, R or Haploview, we describe how to use these popular tools for handling single-nucleotide polymorphism data in order to carry out tests of association and visualize and interpret results. This protocol assumes that data quality assessment and control has been performed, as described in a previous protocol, so that samples and markers deemed to have the potential to introduce bias to the study have been identified and removed. Study design, marker selection and quality control of case-control studies have also been discussed in earlier protocols. The protocol should take ∼1 h to complete.
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Cites
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Cited by
Sosnay, P. R., Siklosi, K. R., Van Goor, F., Kaniecki, K., Yu, H., Sharma, N., Ramalho, A. S., Amaral, M. D., Dorfman, R., Zielenski, J., et al. (2013) · Nature Genetics · doi:10.1038/ng.2745 · Cited by 630
Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification
Dapas, M., & Dunaif, A. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnac001 · Cited by 300
Cacciaglia, R., Molinuevo, J. L., Falcón, C., Brugulat‐Serrat, A., Sánchez‐Benavides, G., Gramunt, N., Esteller, M., Morán, S., Minguillón, C., Fauria, K., et al. (2018) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2018.01.016 · Cited by 124
Lessons learned — resolving the enigma of genetic factors in IBS
Gazouli, M., Wouters, M. M., Kapur-Pojskić, L., Bengtson, M.-B., Friedman, E., Nikčević, G., Demetriou, C. A., Mulak, A., Santos, J., & Niesler, B. (2016) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/nrgastro.2015.206 · Cited by 86
Metadata
- Authors
- Clarke, G. M., Anderson, C. A., Pettersson, F. H., Cardon, L. R., Morris, A. P., & Zondervan, K. T.
- Venue
- Nature Protocols
- Published
- 2011-02
- Volume
- 6
- Issue
- 2
- Pages
- 121-133
- ISSN
- 1750-2799 (ISSN-L)
- 1754-2189
- OpenAlex
- W2148732309
- Cited by
- 508
- References
- 39
- FWCI
- 10.96
- Type
- journal article
- Language
- en
- Open access
- green
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